All variants in the MKKS gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_170784.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 5 c.1186G>T r.(?) p.(Val396Phe) - likely pathogenic g.10388350C>A g.10407702C>A - - MKKS_000047 - PubMed: González-del Pozo 2014 - - Germline yes - - 0 - María González-del Pozo
+/. 5 c.1186G>T r.(?) p.(Val396Phe) - pathogenic g.10388350C>A - c.1186G>T; p.V396F - MKKS_000047 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - LOVD
+/. 5 c.1186G>T r.(?) p.(Val396Phe) - pathogenic g.10388350C>A - c.1186G>T; p.V396F - MKKS_000047 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - LOVD
+/. 5 c.1186G>T r.(?) p.(Val396Phe) - pathogenic g.10388350C>A - c.1186G>T; p.V396F - MKKS_000047 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - 0 - LOVD
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